Print friendly version
Congenital diaphragmatic hernia
Other Names for this Disease
- Agenesis of hemidiaphragm
- Congenital diaphragmatic defect
- Unilateral agenesis of diaphragm
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
On this page
Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect. These individuals are classified as having syndromic CDH either resulting from a recognized chromosome abnormality or as a single gene disorder. In the remaining 80%-85% of individuals with CDH, the cause is not known. Potential causes in these individuals may include:
- a currently undetectable chromosomal microdeletion (tiny loss of genetic material) or microduplication (an extra copy of genetic material)
- a mutation in a major gene important for diaphragm development
- combined effects of multiple minor genetic mutations or variants (polygenic inheritance)
- effects of gene-environment interactions (multifactorial inheritance)
- effects of non-genetic factors (e.g. epigenetic or teratogenic)
Last updated: 11/27/2012
- Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman. Congenital Diaphragmatic Hernia Overview. GeneReviews. March 16, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1359/. Accessed 11/27/2012.